✦ LIBER ✦

Myhre syndrome in a female with previously undescribed symptoms: Further delineation of the phenotype

✍ Scribed by M.A.M. van Steensel; M. Vreeburg; P.M. Steijlen; C. de Die-Smulders

Publisher: John Wiley and Sons
Year: 2005
Tongue: English
Weight: 204 KB
Volume: 139A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.30988

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Wisconsin syndrome in a patient with int

Wisconsin syndrome in a patient with interstitial deletion of the long arm of chromosome 3: Further delineation of the phenotype

✍ Ko, Wai-tai ;Lam, Wai-fan ;Lo, Fai-man ;Chan, Wing-kwong ;Lam, Tak-sum 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 230 KB 👁 3 views

## Abstract Interstitial deletions of the long arm of chromosome 3 are uncommon. Most cases are related to the blepharophimosis–ptosis–epicanthus inversus syndrome (BPES), which is mapped to 3q23. We report on a case with a de novo chromosomal deletion of 3q23 and 3q25. We review the literature on

Kleefstra syndrome in three adult patien

Kleefstra syndrome in three adult patients: Further delineation of the behavioral and neurological phenotype shows aspects of a neurodegenerative course

✍ Willem M.A. Verhoeven; Jos I.M. Egger; Karlijn Vermeulen; Bart P.C. van de Warre 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 150 KB 👁 2 views

## Abstract Kleefstra syndrome (KS), previously known as the 9q subtelomeric deletion syndrome (9qSTDS) is caused by haploinsufficiency of the __EHMT1__ gene. Both a single mutation and 9q34 microdeletions encompassing the entire gene can be responsible for this syndrome which is characterized by i

Microcephaly with chorioretinopathy in a

Microcephaly with chorioretinopathy in a brother–sister pair: Evidence for germ line mosaicism and further delineation of the ocular phenotype

✍ Karmen M. Trzupek; Rena E. Falk; Joseph L. Demer; Richard G. Weleber 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 218 KB 👁 1 views

Low birth-weight, microcephalic malforma

Low birth-weight, microcephalic malformation syndrome in a 46,XX girl and her 46,XY sister with agonadism: Third report of the Kennerknecht syndrome or autosomal recessive Seckel-like syndrome with previously undescribed genital anomalies

✍ Silengo, Margherita ;Del Monaco, Angelo ;Linari, Alessandra ;Lala, Roberto 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 126 KB 👁 2 views